| Autor: |
Tinsa, F., Bel Hadj, I., Riant, F., Ben Romdhane, M., Brini, I., Tournier-Lasserve, E., Louati, H., Abdelhak, S., Hamouda, S., Boussetta, K. |
| Zdroj: |
Revue Neurologique; March 2019, Vol. 175 Issue: 3 p194-197, 4p |
| Abstrakt: |
Familial CCM is a rare entity associated with the mutation of three genes: CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10). We report here the first description of a Tunisian familial CCMs composed of six members. The father and two daughters were affected and symptomatic. The two other kindred were healthy. Surgical treatment was performed in only one affected patient. Molecular analysis of KRIT1, MGC4607and PDCD10genes identified a large KRIT1 deletion of the first ten exons. To the best of our knowledge, this large deletion has never been reported before. |
| Databáze: |
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